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Distal Arthrogryposis Type 2B2

Disease ID: disease_node_15787

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DbxrefMIM:618435
SubclassofDOID_0050736, DOID_0111599
Data SourceDOID
SynonymsDA2B2
Doid Labeldistal arthrogryposis type 2B2
Doid DescriptionA distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5.
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_15787
Doid IdDOID_0111601
LabelDistal Arthrogryposis Type 2B2